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DNA Mutations and Genetic Diseases Ch 13, 14, 15

DNA Mutations and Genetic Diseases Ch 13, 14, 15

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  • DNA Mutations and Genetic Diseases Ch 13, 14, 15
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  • What is a Mutation? Changes in the normal sequence of DNA Many different types and sizes One letter mistakes to whole chromosome mistakes
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  • -Mutations that produce ______________ are usually harmful. -Harmful mutations are associated with many ________________ and can cause MUTATIONS can be: HARMFUL defective proteins genetic disorderscancer
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  • Mutations can help an organism _________________ Provide a way for species to change over time (evolution) ____________- Mutations are also a source of ______________ in the population MUTATIONS can be: BENEFICIAL genetic variation survive and reproduce
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  • Mutations can happen: when cells make_________ in copying DNA when cells are exposed to environmental ___________ like __________- X-rays, tanning booths __________ - cigarette smoke, pollutants __________ - HPV _______________ are changes in the genetic material. MUTATIONS mistakes REMEMBER! carcinogens radiation chemicals viruses
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  • Gene Mutations A mutation is a change or alteration, either in form or qualities Mutations involving 1 or more genes Point Mutations = substitute one letter in for another (A,G,T,C), usually not a problem Frameshift Mutations = insert or delete letters, throws off how the entire sequence is read = problem
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  • Chromosome Mutations Changes in the number and structure of chromosomes Chromosome Duplication: extra piece of chromosome or an entire extra chromosome Chromosome Deletion: a piece of chromosome is lost or an entire chromosome is missing
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  • Karyotype-picture of a persons chromosomes
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  • Results of DNA Mutation Notes Failure to Make the Right Proteins
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  • Down Syndrome Trisomy 21 = 3 number 21 chromosomes Symptoms = distinct facial features, low communication skills, hearing and seeing problems, lower IQ Occurs mostly when women have children after 40
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  • Phenylketonuria (PKU) CAUSE: Mutation in gene for an ___________ that __________ an ___________ called phenylalanine Build up causes ________________________ MENTAL RETARDATION ENZYME http://biology.clc.uc.edu/courses/bio104/protein.htm breaks downamino acid X X
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  • Phenylketonuria (PKU) ____ babies are ________ for PKU before they leave the hospital. Treatment: Need a diet _____________________ to extend life and ______________ mental retardation If phenylalanine is an _____________, what type of foods should PKU patients avoid? __________________ amino acid PROTEINS ! LOW in phenylalanine PREVENT ALLtested http://labspace.open.ac.uk/file.php/2588/SK195_6_002i.jpg
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  • THINK ABOUT IT What does a can of Diet Coke have to do with human genetics? LOOK AT THE WARNING LABEL ! ______________ is made with phenylalanine NUTRASWEET
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  • Hemophilia Blood doesnt clot correctly Risk of bleeding to death A X chromosome deletion 1 in 400 babies affected yearly Treatments add clotting factors to blood so that it will clot correctly
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  • Albinism Lack of melanin pigment Cause: gene mutation on #11, #15, or #9 Symptoms: little or not pigment in the skin, hair, and eyes; bad vision, sensitive skin 1 in 17,000 people Special glasses and protective clothing must be worn when outside
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  • Proteus Syndrome Deletion on chromosome #11 Symptoms: atypical bone growth, tumors on and beneath skin Very rare The elephant man?
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  • Achondroplasia Gene affected on chromosome #4 Symptoms = short arms and legs, normal sized head and spine, normal IQ Possible for 2 dwarfs to have a normal sized child 1 in 15,000 people have it
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  • Sickle Cell Anemia Gene on chromosome #11 is affected 1 in 635 babies, more common in African Americans Sickle shaped blood cells result in painful arms and legs, breathing problems, dehydration, swelling
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  • Huntingtons Disease Duplication on chromosome #8 Uncontrollable muscle spasms, deterioration of the brain, death Symptoms dont show up until 30 50 years old, so you pass it on to your kids without even knowing (50% chance)
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  • Turner Syndrome Female who is missing an X chromosome Symptoms: short, webbed neck, infertile, bone deformations Hormone replacement therapy helps relieve symptoms
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  • Klinefelters Syndrome Men that are XXY 1 in 700 men have it Symptoms: Normal males (some develop feminine traits) they are just infertile Most men dont know that they have it until they try to have children
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  • Cleft Lip and Palate A large gap in the roof of the mouth and lip Didnt form correctly before birth Side effect of other genetic diseases and of fetal alcohol syndrome (drinking while pregnant) Surgery can return to normal, but expensive
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  • Cri du Chat Syndrome Missing piece of chromosome #5 Symptoms: slow growth rate, high pitched scream (cat like), low IQ, webbed fingers and toes Very rare
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  • Progeria or(Hutchinson Gilford) Caused by a fresh mutation or has occurred only by chance in the child and does not occur in either of the parents. Only 10-12 people worldwide have it at one time Age 10 times faster Die of heart failure at 10-15
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  • Manipulating DNA Chapter 14-3
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  • Manipulating DNA Scientists can cut and paste DNA to get specific sequences that they want Very similar to cutting and splicing video tapes
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  • Tools of DNA Manipulation Cutting DNA = Restriction Enzymes Specific enzymes cut DNA at specific sequences (ex) ecoR 1 cuts the DNA at every CTTAAG sequence
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  • Tools of DNA Manipulation Separating DNA = gel electrophoresis The cut up DNA is put on the jelly and a electrical current is passed through it The DNA gets separated by size The largest pieces dont travel as far as the smaller pieces
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  • Tools of DNA Manipulation Making Copies of the DNA = PCR A Polymerase Chain Reaction machine makes copies of the sequences that you want Reading the DNA = dyes and special microscopes -dyes make it possible to tell the difference between A, T, G, and C
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  • What can we do with these tools? 1.Forensics: see if DNA from the crime scene matches a criminals DNA 2.Putting specific genes into plant and animal cells 3.Putting human genes into bacteria to make multiple copies for synthetic use 4.Genetically modified foods
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  • Human Genome Project Our Findings
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  • Goals of HGP Sequence Entire Human Genome Identify Genes Chart Variation Sequence other organisms
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  • Successes Completed Early (1990- 2003) Discovered Only 20,000 Human Genes vs. 100,000 Human genes(previous guess) Mapped Genomes Chimpanzee Mouse Rat Fruit Fly
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  • Other Successes Unraveled Cancer genetics Individualize treatment Changed Ideas of DNA Epigenetics SNPs (Single Nucleotide Polymorphisms) Different by 10 million letters Only.1 % of total genes
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  • Whats Next? Understand functions of genes Catalogue Human Variation How it all works together? In the course of human progress, it has been far easier to understand the things we make, rather than what makes us
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  • Genetic Engineering Chapter 14-3
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  • Genetic Engineering Humans changing the sequence of DNA Get traits that we want Selective breeding, cloning, DNA manipulation and transformation
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  • Selective Breeding Humans controlling who gets to breed so that we can control the traits in the next generation All domestic animals: dog breeds, milk and beef producing cows, etc
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  • Hybridization Cross two dissimilar organisms to get offspring with the best traits from both Only breed the cows that produce the most milk Cross a corn plant that produces a lot of corn to one that resistant to insects Horse X Donkey = Sterile Mule Zorse (zebra and horse) Cama ( Camel and Llama)
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  • Inbreeding Continued breeding of individuals with the desired characteristics Maintains the traits that you want Over inbreeding = joint deformities and blindness
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  • Modern Biotechnology some examples Recombinant DNA Stem cell therapy Cloning Designer drugs Genomics Gene Therapy What are the potential benefits? What are the potential dangers? What are the ethical issues?
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  • Recombinant DNA Taking the DNA of one organism and attaching it to the DNA of another. Uses Plasmids Circular pieces of bacterial DNA Must contain a replication start signal (ori) Must contain a restriction enzyme cutting site http://webapps.css.udel.edu/biotech/rDNA.html
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  • Genetically Modified Bacteria
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  • Cloning Creating Genetically identical individuals 1997 the sheep Dolly was cloned and she produced a viable offspring so it was a success An egg is removed and a cell from the adult that you want to clone is fused with it. The egg cell is than placed into a foster mother where it develops normally
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  • Cloning in Agriculture
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  • Other Cloned Animals Five cloned pitbull puppies are seen with their 'mom' at the Seoul National University Hospital for Animals in South Korea. Prometea and Pegaso (Cloned horse and offspring from cloned horse.)
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  • Transgenic Organisms organisms that have genes from other organisms inserted into their DNA Bacteria = human insulin producers Animals = lab rats with human immune systems, bovine growth hormone Plants = plants that have genes that make them resistant to insects, herbicides, and drought
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  • GMOs Genetically Modified Organisms Almost all of the fruits in vegetables sold in the USA have been genetically modified (92% soy beans, 80% corn etc..) Should they be labeled????
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  • GMO Benefits Decreased Pesticide Usage Bt toxin gene Decreased Spoilage Prevent Disease Golden rice (vitamin A) Source of Human Medicine Human proteins from milk Insulin Blood clotting factors
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  • GMO Cons Cause extinction of beneficial insects Bt toxin No safety testing of GMO food Allergies Long term Non-scientific purposes Cloning Humans/Pets Designer babies Glo-Fish